美国医学遗传学会对基因芯片拷贝数变异结果解读指南

摘要

全基因组芯片已被推荐作为分析智力障碍、孤独症、多发性出生缺陷病因的首要筛查手段，通过芯片检查发现了人类基因组中大量的拷贝数变异（copy number variation，CNV），这些变异中既有正常个体的多态性，也有新发的致病性变异。为帮助临床实验室对芯片结果的解读保持一致性，美国医学遗传学会制定了此有关CNV的解读指南。该指南主要应用于产后的分子遗传诊断中。%Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability,autism spectrum disorders,and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome,both polymorphic variation in healthy individuals and novel pathogenic copy number imbalances. To assist clinical laboratories in the evaluation of copy number variants and to promote consistency in interpretation and reporting of genomic microarray results,the American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation. These guidelines apply primarily to evaluation of constitutional copy number variants detected in the postnatal setting.